Canonical Allele Identifier: CA331037838

Gene: OGT

Linked Data

• dbSNP Id: rs752408854
• gnomAD v2: X-70775034-T-A
• gnomAD v3: X-71555184-T-A
• gnomAD v4: X-71555184-T-A
• MyVariant Identifiers: chrX:g.70775034T>A (hg19) ; chrX:g.71555184T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.71555184T>A , CM000685.2:g.71555184T>A	GRCh38
NC_000023.10:g.70775034T>A , CM000685.1:g.70775034T>A	GRCh37
NC_000023.9:g.70691759T>A	NCBI36
NG_015875.1:g.27123T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000699749.1:c.660-6T>A	ENSP00000514559.1:n.660-6T>A
ENST00000699750.1:c.*588-6T>A	ENSP00000514560.1:n.*588-6T>A
ENST00000699751.1:n.1278+592T>A
ENST00000699779.1:c.*3597-6T>A	ENSP00000514585.1:n.*3597-6T>A
ENST00000699780.1:c.728+592T>A	ENSP00000514586.1:n.728+592T>A
ENST00000699781.1:c.*332+592T>A	ENSP00000514587.1:n.*332+592T>A
ENST00000699782.1:c.630-6T>A	ENSP00000514588.1:n.630-6T>A
ENST00000699783.1:c.699-6T>A	ENSP00000514589.1:n.699-6T>A
ENST00000699784.1:c.699-6T>A	ENSP00000514590.1:n.699-6T>A
ENST00000699785.1:c.*734-6T>A	ENSP00000514591.1:n.*734-6T>A
ENST00000373719.8:c.729-6T>A MANE Select	ENSP00000362824.3:n.729-6T>A
ENST00000373701.7:c.699-6T>A	ENSP00000362805.3:n.699-6T>A
ENST00000373719.7:c.729-6T>A	ENSP00000362824.3:n.729-6T>A
ENST00000455587.3:n.608-6T>A
ENST00000459760.1:n.106-6T>A
ENST00000488174.5:n.4165+592T>A
NM_181672.2:c.729-6T>A	NP_858058.1:n.729-6T>A
NM_181673.2:c.699-6T>A	NP_858059.1:n.699-6T>A
XM_005262308.1:c.-220+592T>A	XP_005262365.1:n.-220+592T>A
XM_017029908.1:c.-220+592T>A	XP_016885397.1:n.-220+592T>A
XM_024452467.1:c.-220+592T>A	XP_024308235.1:n.-220+592T>A
NM_181672.3:c.729-6T>A MANE Select	NP_858058.1:n.729-6T>A
NM_181673.3:c.699-6T>A	NP_858059.1:n.699-6T>A